ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, X-linked 99, syndromic, female-restricted by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter)	rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs)	rs2063238551

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